THESIS
2015
iv leaves, v-ix, 131 pages : illustrations (some color) ; 30 cm
Abstract
Earlier, we reported on associations between the single nucleotide polymorphisms
(SNP) of the GABRB2 gene and schizophrenia. By examining the genomic sequence
harboring the disease-associated SNPs (a 3,551-bp segment spanning from base
160,689,203 to 160,692,753 of human chromosome 5 based on the coordinates of
human genome hg19), we have observed a number of important genomic features:
elevated sequence diversity, high-derived allele frequency, structural polymorphism
(a human-specific Alu insertion), and close vicinity to coding elements. The disease-associated region is shown to be under recent and on-going positive selection. Based
on population genetic data, we observed substantial recombination rate in the region.
The localization of various features in the disease-associa...[
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Earlier, we reported on associations between the single nucleotide polymorphisms
(SNP) of the GABRB2 gene and schizophrenia. By examining the genomic sequence
harboring the disease-associated SNPs (a 3,551-bp segment spanning from base
160,689,203 to 160,692,753 of human chromosome 5 based on the coordinates of
human genome hg19), we have observed a number of important genomic features:
elevated sequence diversity, high-derived allele frequency, structural polymorphism
(a human-specific Alu insertion), and close vicinity to coding elements. The disease-associated region is shown to be under recent and on-going positive selection. Based
on population genetic data, we observed substantial recombination rate in the region.
The localization of various features in the disease-associated region is likely to be
common and possibly observed in other complex diseases. To test the hypothesis, we
have proceeded to examine the co-localization of a large number of genomic and
phenotypic (functional) features with structural breakpoints within cancer genomes.
The co-localization findings revealed a range of significant association between
genomic and phenotypic features that could be highly informative with respect to the
origin and evolution of the human genome, as well as the relationship between
phenotypes and genome structures.
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